ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1311+2T>G

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002385444 SCV002694333 pathogenic Cardiovascular phenotype 2017-05-24 criteria provided, single submitter clinical testing The c.1311+2T>G intronic pathogenic mutation results from a T to G substitution two nucleotides after coding exon 10 in the ENG gene. This mutation was identified in an individual meeting diagnostic criteria of hereditary hemorrhagic telangiectasia (HHT) (McDonald J et al. Clin. Genet., 2011 Apr;79:335-44). Other nucleotide substitutions at the same position were also reported in individuals with HHT (Cymerman U et al. Pediatr. Res., 2000 Jan;47:24-35; Bossler AD et al. Hum. Mutat., 2006 Jul;27:667-75). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.